Submissions for variant NM_005359.6(SMAD4):c.1611C>T (p.Asp537=)

gnomAD frequency: 0.00002  dbSNP: rs369598262

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703530	SCV000515484	likely benign	not provided	2020-12-28	criteria provided, single submitter	clinical testing
Invitae	RCV000465694	SCV000556154	likely benign	Juvenile polyposis syndrome	2023-12-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318398	SCV000676269	likely benign	Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome	2015-10-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV000569140	SCV001340578	likely benign	Hereditary cancer-predisposing syndrome	2018-12-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001703530	SCV002546012	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	SMAD4: BP4, BP7